ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2641G>T (p.Glu881Ter) (rs397508988)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000225552 SCV000282284 pathogenic Breast-ovarian cancer, familial 1 2016-04-22 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000225552 SCV000325414 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000478682 SCV000566938 pathogenic not provided 2017-01-04 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.2641G>T at the cDNA level and p.Glu881Ter (E881X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon (GAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA1 Glu881Ter has been observed in association with hereditary breast and/or ovarian cancer, and is reported to be an Afrikaner pathogenic founder variant (Reeves 2004, van der Merwe 2012, Plaskocinska 2016). We therefore consider this variant to be pathogenic.
Ambry Genetics RCV000563817 SCV000661051 pathogenic Hereditary cancer-predisposing syndrome 2016-06-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Color RCV000563817 SCV000688394 pathogenic Hereditary cancer-predisposing syndrome 2017-09-16 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496821 SCV000587242 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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